Mutagenetix > Incidental Mutations

Incidental Mutation 'R6248:Hdac9'

505624

Institutional Source

Beutler Lab

Gene Symbol

Hdac9

Ensembl Gene

ENSMUSG00000004698

Gene Name

histone deacetylase 9

Synonyms

Hdac7b, HDRP, Mitr, D030072B18Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34047580-34917095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34528294 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 4 (M4K)

Ref Sequence

ENSEMBL: ENSMUSP00000147395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110819] [ENSMUST00000209463] [ENSMUST00000209667] [ENSMUST00000209750] [ENSMUST00000209902] [ENSMUST00000209990] [ENSMUST00000210724] [ENSMUST00000211752]

Predicted Effect

probably benign
Transcript: ENSMUST00000110819
AA Change: M4K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106443
Gene: ENSMUSG00000004698
AA Change: M4K

Domain	Start	End	E-Value	Type
Pfam:HDAC4_Gln	37	124	5.4e-36	PFAM
low complexity region	260	284	N/A	INTRINSIC
low complexity region	370	382	N/A	INTRINSIC
low complexity region	389	400	N/A	INTRINSIC
low complexity region	464	480	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209463
AA Change: M4K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000209667
AA Change: M4K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000209750
AA Change: M4K

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000209902
AA Change: M4K

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209990
AA Change: M4K

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000210724
AA Change: M4K

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211632

Predicted Effect

probably benign
Transcript: ENSMUST00000211752
AA Change: M25K

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (92/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display age dependent cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 160,075,408	S83P	possibly damaging	Het
Actr10	A	T	12: 70,952,959	E176D	probably benign	Het
Adcy3	G	A	12: 4,208,662		probably null	Het
AI429214	T	A	8: 36,994,124	I142N	probably damaging	Het
Alox12	A	G	11: 70,253,110	L148S	probably damaging	Het
Ank3	A	G	10: 69,973,850	I1147V	probably benign	Het
Apoc2	C	T	7: 19,673,568	V12I	probably benign	Het
Arap3	T	C	18: 37,991,354	S311G	probably benign	Het
Arih2	G	T	9: 108,611,642	H292Q	probably damaging	Het
Cdc14a	A	T	3: 116,308,194	D312E	probably benign	Het
Cdh12	T	G	15: 21,237,714	W12G	possibly damaging	Het
Cisd2	A	T	3: 135,408,855	N118K	probably damaging	Het
Cntnap5b	A	G	1: 100,072,102	Q195R	probably benign	Het
Cyp2r1	A	G	7: 114,562,731		probably null	Het
Cyp4f37	A	G	17: 32,629,890	D244G	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dido1	T	A	2: 180,660,255	H1952L	probably damaging	Het
Dnah10	T	A	5: 124,794,219		probably null	Het
Dnal4	T	A	15: 79,762,513	M56L	probably damaging	Het
Emilin2	A	G	17: 71,274,117	V538A	probably benign	Het
Eps8l2	A	G	7: 141,342,102	D31G	probably damaging	Het
Erp44	A	T	4: 48,219,479	L112*	probably null	Het
Etl4	C	T	2: 20,809,089	T1907I	possibly damaging	Het
Exoc3	A	G	13: 74,182,281	F510L	probably benign	Het
Fam114a2	G	T	11: 57,493,116	T324K	possibly damaging	Het
Fer1l4	G	A	2: 156,046,171	R465C	probably damaging	Het
Frmd4b	A	C	6: 97,459,212	S2R	probably benign	Het
Fscn1	A	T	5: 142,961,023	D192V	possibly damaging	Het
Gm15922	C	A	7: 3,736,338	E510D	probably benign	Het
Gm3486	T	A	14: 41,484,515	*200C	probably null	Het
Gusb	A	T	5: 130,000,525	H138Q	probably benign	Het
Hhipl1	G	T	12: 108,318,705	R439L	probably benign	Het
Hoxd9	A	G	2: 74,698,636	E194G	probably benign	Het
Itgb1	A	G	8: 128,722,421	S503G	possibly damaging	Het
Kcnt2	T	A	1: 140,509,478	C500S	probably damaging	Het
Kdm7a	G	A	6: 39,147,049	S727L	possibly damaging	Het
Klhdc4	A	G	8: 121,813,768	F92L	probably damaging	Het
Klrb1a	A	G	6: 128,619,174	V62A	probably damaging	Het
Krit1	A	G	5: 3,813,032		probably null	Het
Krt40	A	G	11: 99,541,740	I150T	possibly damaging	Het
Larp4b	A	G	13: 9,158,702	T464A	probably benign	Het
Lrrc52	T	G	1: 167,466,395	D107A	probably damaging	Het
Mapkap1	G	T	2: 34,518,680	V35F	probably damaging	Het
Mccc1	A	G	3: 35,990,164	V171A	probably damaging	Het
Metap1d	A	T	2: 71,515,760	R222*	probably null	Het
Mrgpre	G	A	7: 143,780,866	A300V	probably benign	Het
Mterf1b	C	A	5: 4,196,606	N82K	probably benign	Het
Myh9	C	T	15: 77,785,222	W533*	probably null	Het
Myom2	A	G	8: 15,098,472		probably null	Het
Ncor1	G	A	11: 62,366,982	P329S	probably damaging	Het
Nr2f1	T	C	13: 78,196,492		probably benign	Het
Olfr1348	A	T	7: 6,501,676	C183*	probably null	Het
Olfr1361	A	T	13: 21,659,074	I83N	possibly damaging	Het
Olfr417	T	G	1: 174,369,670	V251G	probably benign	Het
Olfr47	C	T	6: 43,235,904	Q99*	probably null	Het
Olfr551	T	C	7: 102,588,030	T238A	probably benign	Het
Olfr800	A	G	10: 129,660,663	I286V	probably benign	Het
Olfr96	T	A	17: 37,225,560	L145*	probably null	Het
Pcdha11	T	C	18: 37,005,897	L193P	probably benign	Het
Pcdhb20	T	A	18: 37,506,232	F604I	probably damaging	Het
Pde1a	T	C	2: 79,878,201	H291R	probably damaging	Het
Pfkm	G	A	15: 98,126,379	V423M	probably damaging	Het
Pkd2l1	G	T	19: 44,157,669	Q149K	probably benign	Het
Pkhd1l1	T	A	15: 44,529,559	N1763K	probably benign	Het
Pla2g4a	G	A	1: 149,872,587	T282I	probably damaging	Het
Prpf39	A	C	12: 65,042,754	N89H	probably damaging	Het
Rad54l2	A	G	9: 106,710,338	F743L	probably damaging	Het
Raver2	A	G	4: 101,134,123		probably null	Het
Ric8b	T	C	10: 84,947,845	L189P	probably damaging	Het
Sccpdh	T	C	1: 179,668,392	F13L	probably benign	Het
Scd2	T	C	19: 44,303,009	F296L	probably damaging	Het
Scg2	G	T	1: 79,436,306	D233E	probably benign	Het
Sema5b	C	A	16: 35,628,007		probably null	Het
Skint5	A	T	4: 113,779,089	V644E	unknown	Het
Slc44a5	G	T	3: 154,264,041	V612F	possibly damaging	Het
Snd1	C	T	6: 28,520,235	R107*	probably null	Het
Sun5	G	T	2: 153,860,669	T189K	probably damaging	Het
Tap1	A	T	17: 34,193,177	E452V	probably damaging	Het
Tcam1	A	G	11: 106,282,826	N32S	probably benign	Het
Tep1	T	C	14: 50,830,258	E2167G	probably damaging	Het
Tm9sf1	C	T	14: 55,636,370	R557H	probably damaging	Het
Tmem175	T	C	5: 108,645,955	V317A	probably damaging	Het
Tsga13	A	G	6: 30,897,204	V231A	probably benign	Het
Tspan12	A	G	6: 21,799,971	S126P	probably damaging	Het
Uvrag	G	T	7: 98,988,191	D143E	probably damaging	Het
Vmn1r230	T	A	17: 20,846,774	M75K	possibly damaging	Het
Vmn2r120	A	T	17: 57,545,287	F10I	probably benign	Het
Vmn2r57	T	C	7: 41,399,860	T822A	probably benign	Het
Vmn2r67	T	C	7: 85,150,560	Y490C	probably damaging	Het
Zc3h7b	T	A	15: 81,783,185	W644R	probably damaging	Het
Zeb1	A	G	18: 5,766,962	D491G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp831	A	T	2: 174,644,515	T328S	possibly damaging	Het

Other mutations in Hdac9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Hdac9	APN	12	34429489	splice site	probably benign
IGL01484:Hdac9	APN	12	34437165	missense	probably damaging	1.00
IGL02010:Hdac9	APN	12	34431945	missense	probably damaging	1.00
IGL02059:Hdac9	APN	12	34431968	missense	probably damaging	0.97
IGL02276:Hdac9	APN	12	34431926	missense	probably damaging	1.00
IGL02797:Hdac9	APN	12	34393274	splice site	probably benign
IGL03202:Hdac9	APN	12	34373951	missense	probably damaging	1.00
PIT4468001:Hdac9	UTSW	12	34095934	missense	unknown
R0304:Hdac9	UTSW	12	34374111	missense	probably damaging	1.00
R0432:Hdac9	UTSW	12	34437222	missense	probably damaging	1.00
R0659:Hdac9	UTSW	12	34437222	missense	probably damaging	1.00
R1826:Hdac9	UTSW	12	34429492	splice site	probably benign
R1879:Hdac9	UTSW	12	34390333	missense	probably damaging	0.98
R1942:Hdac9	UTSW	12	34429545	missense	probably damaging	1.00
R2113:Hdac9	UTSW	12	34389332	missense	probably damaging	1.00
R2151:Hdac9	UTSW	12	34390256	missense	probably damaging	1.00
R2216:Hdac9	UTSW	12	34429517	missense	probably damaging	1.00
R2224:Hdac9	UTSW	12	34407802	missense	probably benign	0.09
R2225:Hdac9	UTSW	12	34407802	missense	probably benign	0.09
R2227:Hdac9	UTSW	12	34407802	missense	probably benign	0.09
R3500:Hdac9	UTSW	12	34437353	missense	probably benign	0.01
R4441:Hdac9	UTSW	12	34389376	missense	probably damaging	1.00
R4674:Hdac9	UTSW	12	34373960	missense	possibly damaging	0.96
R4694:Hdac9	UTSW	12	34437247	missense	probably damaging	1.00
R5033:Hdac9	UTSW	12	34373907	missense	probably benign
R5229:Hdac9	UTSW	12	34437164	missense	probably damaging	1.00
R5353:Hdac9	UTSW	12	34393393	nonsense	probably null
R5384:Hdac9	UTSW	12	34429558	missense	probably damaging	1.00
R5958:Hdac9	UTSW	12	34373883	missense	probably damaging	0.97
R6129:Hdac9	UTSW	12	34287475	missense	probably damaging	1.00
R6157:Hdac9	UTSW	12	34389429	missense	probably damaging	1.00
R6333:Hdac9	UTSW	12	34052324	missense	probably damaging	0.98
R6474:Hdac9	UTSW	12	34431991	critical splice acceptor site	probably null
R6589:Hdac9	UTSW	12	34215029	missense	probably damaging	1.00
R6737:Hdac9	UTSW	12	34215452	missense	probably damaging	1.00
R6767:Hdac9	UTSW	12	34287529	missense	probably damaging	1.00
R6837:Hdac9	UTSW	12	34287464	missense	probably benign	0.12
R6857:Hdac9	UTSW	12	34393363	missense	probably benign	0.37
R7069:Hdac9	UTSW	12	34429549	missense	possibly damaging	0.92
R7237:Hdac9	UTSW	12	34374140	critical splice acceptor site	probably null
R7768:Hdac9	UTSW	12	34390240	missense	possibly damaging	0.81
R7917:Hdac9	UTSW	12	34433210	missense	probably benign	0.31
R7974:Hdac9	UTSW	12	34303220	missense	possibly damaging	0.87
R7990:Hdac9	UTSW	12	34215453	missense	probably benign	0.05
R8489:Hdac9	UTSW	12	34437181	missense	probably damaging	1.00
Z1088:Hdac9	UTSW	12	34407789	missense	probably damaging	1.00
Z1176:Hdac9	UTSW	12	34373987	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACACTCAGAATGTGCAAGC -3'
(R):5'- AGTTGATCCCCTGCTTGCTG -3'

Sequencing Primer
(F):5'- CACTCAGAATGTGCAAGCAAAGG -3'
(R):5'- GCTTGCTGTTTCTCCTCGGAG -3'

Posted On

2018-02-28